Presentation Description :
In the recent past, major progress has been made in the identification of genes involved in common, complex eye diseases. Studies were initially designed to identify genetic variants that are common in the population, but with the development of next-generation sequencing technologies the focus has shifted towards the discovery of rare variants. Genetic variants at hundreds of loci have been identified that are associated with age-related macular degeneration, glaucoma, myopia, retinal detachment, corneal dystrophies and diabetic retinopathy. These studies have led to a better understanding of the molecular disease mechanisms and have provided new targets for treatment. Despite the significant progress that has been made, important challenges remain, including the identification of the remaining genetic causes, which will require large, multicenter cohorts and data harmonisation, the design of reliable predictive tests, and understanding the functional effects of the associated genetic variants.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.